beckwith-wiedemann syndrome and microcephaly

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  • #260

    neeraja83
    Participant

    The question in about a 3 year old with macroglossia, microcephaly, and umbilical hernia says. Answer is Beckwith-Wiedemann Syndrome. Why can’t it be hypothyroidism?

    I was thinking it can have all the 3 features described in the question and was confused………

    #261

    ashish
    Member

    It’s the microcephaly that differentiates hypothyroidsm from Beckwith-Wiedemann Syndrome. It’s not a commonly associated finding in hypothyroid kids In fact, a AAP Pediatrics article even states that hypothyroid kids may have MACROcephaly compared to body size: http://pediatrics.aappublications.org/content/59/4/628.abstract

    Hope that clarifies.

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